부산대학교 도서관

American Journal of Mathematics, 1932 Jan 01. 54(1), 85-91.

Youssef A. Attia; N. F. Addeo; Fulvia Bovera; El-Shohat M. Qota; Rashed A. Alhotan; Mohamed Albanoby; Mervat A. Mahmoud

Italian Journal of Animal Science, Vol 24, Iss 1, Pp 109-122 (2025)

Novi Inverardi, Pier Luigi (I-TRNT-NDM) AMS Author Profile; Tagliani, Aldo (I-TRNT-NDM) AMS Author Profile

Electronic Communications in Probability (Electron. Commun. Probab.) (20250101), 30, Paper No 61, 10 pp. eISSN: 1083-589X.

Rodriguez-Palmero A.; Boerrigter M. M.; Gomez-Andres D.; Aldinger K. A.; Marcos-Alcalde I.; Popp B.; Everman D. B.; Lovgren A. K.; Arpin S.; Bahrambeigi V.; Beunders G.; Bisgaard A. -M.; Bjerregaard V. A.; Bruel A. -L.; Challman T. D.; Cogne B.; Coubes C.; de Man S. A.; Denomme-Pichon A. -S.; Dye T. J.; Elmslie F.; Feuk L.; Garcia-Minaur S.; Gertler T.; Giorgio E.; Gruchy N.; Haack T. B.; Haldeman-Englert C. R.; Haukanes B. I.; Hoyer J.; Hurst A. C. E.; Isidor B.; Soller M. J.; Kushary S.; Kvarnung M.; Landau Y. E.; Leppig K. A.; Lindstrand A.; Kleinendorst L.; MacKenzie A.; Mandrile G.; Mendelsohn B. A.; Moghadasi S.; Morton J. E.; Moutton S.; Muller A. J.; O'Leary M.; Pacio-Miguez M.; Palomares-Bralo M.; Parikh S.; Pfundt R.; Pode-Shakked B.; Rauch A.; Repnikova E.; Revah-Politi A.; Ross M. J.; Ruivenkamp C. A. L.; Sarrazin E.; Savatt J. M.; Schluter A.; Schonewolf-Greulich B.; Shad Z.; Shaw-Smith C.; Shieh J. T.; Shohat M.; Spranger S.; Thiese H.; Mau-Them F. T.; van Bon B.; van de Burgt I.; van de Laar I. M. B. H.; van Drie E.; van Haelst M. M.; van Ravenswaaij-Arts C. M.; Verdura E.; Vitobello A.; Waldmuller S.; Whiting S.; Zweier C.; Prada C. E.; de Vries B. B. A.; Dobyns W. B.; Reiter S. F.; Gomez-Puertas P.; Pujol A.; Tumer Z.

Genetics in Medicine
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Institut de Recerca Germans Trias i Pujol (IGTP)
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, A L, Challman, T D, Cogné, B, Coubes, C, de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L, García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M, Pacio-Míguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M, Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, 'DLG4-related synaptopathy : a new rare brain disorder', Genetics in Medicine, vol. 23, no. 5, pp. 888-899. https://doi.org/10.1038/s41436-020-01075-9
Genetics in Medicine, 23, 5, pp. 888-899

International Journal of Pediatric Otorhinolaryngology. 24(3):285-286

Bassal, R.; Wax, M.; Shirazi, R.; Shohat, T.; Cohen, D.; David, D.; Abu-Mouch, S.; Abu-Ghanem, Y.; Mendelson, E.; Ben-Ari, Z.; Mor, O.

Epidemiology and Infection, 2019 Jan 01. 147, 1-5.

Miremberg H; Division of Obstetric Ultrasound, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Malinger G; Division of Obstetric Ultrasound, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Kidron D; Department of Pathology, Meir Medical Center, Kfar Saba, Israel.; Levy M; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetics Institute & Genome Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Yaron Y; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetics Institute & Genome Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Shohat M; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Maccabi Genetic Institute & Bioinformatics Unit, Sheba Cancer Research Center, Ramat Gan, Israel.; Goldstein R; Maccabi Genetic Institute & Bioinformatics Unit, Sheba Cancer Research Center, Ramat Gan, Israel.; Ben Sira L; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Radiology Unit, Dana Children Hospital Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Brusilov M; Division of Obstetric Ultrasound, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Birnbaum R; Division of Obstetric Ultrasound, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Haratz KK; Division of Obstetric Ultrasound, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Elron E; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Shohat M; Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Maccabi Genetic Institute & Bioinformatics Unit, Sheba Cancer Research Center, Ramat Gan, Israel.; Basel-Salmon L; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Tel Aviv University, Tel Aviv, Israel.; Kahana S; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Matar R; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Klein K; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Agmon-Fishman I; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Gurevitch M; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Berger R; Maccabi Genetic Institute & Bioinformatics Unit, Sheba Cancer Research Center, Ramat Gan, Israel.; Brabbing-Goldstein D; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Levy M; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Maya I; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Chorin O; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il.; Greenbaum L; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Lev-Hochberg S; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Feinstein-Goren N; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Eliyahu A; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Shani H; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Pras E; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Weissbach T; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Bolkier Y; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Pediatric Cardiology Unit, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Heimer G; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Pediatric Neurology Unit, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Lev D; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel.; Michelson M; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel.; Regev M; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Josefsberg S; The Genetics Institute, Kaplan Medical Center, Rehovot, Israel.; Batzir NA; Pediatrics Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel.; Shalata A; Genetics Institute, Bnai Zion Medical Center, Haifa, Israel.; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Spiegel R; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Department of Pediatrics B, Metabolic Service, Emek Medical Center, Afula, Israel.; Institute for Rare Diseases, Emek Medical Center, Afula, Israel.; Segel R; Shaare Zedek Medical Center, Wolf Children's Hospital, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Lobel O; Shaare Zedek Medical Center, Wolf Children's Hospital, Jerusalem, Israel.; Abu-Libdeh B; Department of Pediatrics, Makassed Hospital and Faculty of Medicine, Al-Quds University, East Jerusalem, Israel.; Shohat M; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Maccabi Genetic Institute, Maccabi Health Services, Tel Aviv-Yafo, Israel.; Bioinformatics Unit, Sheba Cancer Research Center, Ramat Gan, Israel.; Frydman M; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Hady-Cohen R; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel.; Pode-Shakked B; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Rein-Rothschild A; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

BASSAL, R.; MARKOVICH, M. P.; WEIL, M.; SHINAR, E.; CARMELI, Y.; DAN, M.; SOFER, D.; MENDELSON, E.; COHEN, D.; SHOHAT, T.

Epidemiology and Infection, 2017 Oct 01. 145(14), 2890-2895.

Spitzer-Shohat, S.; Shadmi, E.; Goldfracht, M.; Kay, C.; Hoshen, M.; Balicer, R.D.

Journal of Public Health, 2017 Jun 01. 39(2), 395-402.

Basel-Vanagaite, L.; Shohat, M.

International Journal on Disability and Human Development. 1(1):21-26

Levy M; The Genetic Institute of Maccabi Health Services, Rehovot, Israel.; School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.; Lifshitz S; The Genetic Institute of Maccabi Health Services, Rehovot, Israel.; Goldenberg-Fumanov M; The Genetic Institute of Maccabi Health Services, Rehovot, Israel.; Bazak L; The Genetic Institute of Maccabi Health Services, Rehovot, Israel.; Goldstein RJ; The Genetic Institute of Maccabi Health Services, Rehovot, Israel.; Hamiel U; The Genetic Institute of Maccabi Health Services, Rehovot, Israel.; School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Berger R; The Genetic Institute of Maccabi Health Services, Rehovot, Israel.; Lipitz S; School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Maya I; The Genetic Institute of Maccabi Health Services, Rehovot, Israel.; School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.; Shohat M; The Genetic Institute of Maccabi Health Services, Rehovot, Israel.; School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Bioinformatics Unit, Cancer Research Center, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Glassner VO; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Botvinik A; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Mory A; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Reches A; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Haratz KK; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Fleming BM; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Feldman HB; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Tel Aviv University Faculty of Medicine, Tel Aviv, Israel.; Sagi-Dain L; Carmel Medical Center, Haifa, Israel.; Shohat M; Tel Aviv University Faculty of Medicine, Tel Aviv, Israel.; Maccabi Healthcare Services, Tel Aviv-Yafo, Israel.; Goldstein RJ; Maccabi Healthcare Services, Tel Aviv-Yafo, Israel.; Yaron Y; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Tel Aviv University Faculty of Medicine, Tel Aviv, Israel.; Levy M; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Tel Aviv University Faculty of Medicine, Tel Aviv, Israel.; Maccabi Healthcare Services, Tel Aviv-Yafo, Israel.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Birnbaum R; Division of Ultrasound in Obstetrics & Gynecology, Lis Maternity and Women's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Malinger G; Division of Ultrasound in Obstetrics & Gynecology, Lis Maternity and Women's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ben Sira L; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Radiology Unit, Department of Radiology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Goldenberg-Furmanov M; Maccabi Genetic Institute & Bioinformatics Unit, Sheba Cancer Research Center, Ramat Gan, Israel.; Miremberg H; Division of Ultrasound in Obstetrics & Gynecology, Lis Maternity and Women's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Shohat M; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Maccabi Genetic Institute & Bioinformatics Unit, Sheba Cancer Research Center, Ramat Gan, Israel.; Haratz KK; Division of Ultrasound in Obstetrics & Gynecology, Lis Maternity and Women's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: In Process; MEDLINE

Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Guirguis F; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv 64239, Israel.; McCarty RM; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Sarathy A; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Norato G; Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Cummings BB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.; Butterfield RJ; Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, UT 84132, USA.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg 79110, Germany.; Nascimento A; Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII, Barcelona 08950, Spain.; Natera-de Benito D; Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII, Barcelona 08950, Spain.; Quijano-Roy S; Garches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches 92380, France.; Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris 75013, France.; Merlini L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy.; Comi G; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20133, Italy.; Ryan M; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.; McDonald D; Department of Neurodisability, Children's Health Ireland at Tallaght, Dublin D24 TN3C, Ireland.; Munot P; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.; Yoon G; Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.; Leung E; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.; Finanger E; Department of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA.; Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Department of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA.; Collins J; Divisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Tian C; Divisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Cocanougher BT; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA.; Chu ML; Department of Neurology, New York University School of Medicine, New York, NY 10016, USA.; Scavina M; Division of Neurology, Nemours Children's Hospital Delaware, Wilmington, DE 19803, USA.; Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA 92123, USA.; Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.; Kossak BD; Department of Neurology, Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA.; Gospe SM Jr; Department of Neurology and Pediatrics, University of Washington, Seattle, WA 98105, USA.; Bhise V; Departments of Pediatrics and Neurology, Rutgers Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ 08901, USA.; Taurina G; Children's Clinical University Hospital, Medical Genetics and Prenatal Diagnostic Clinic, Riga 1004, Latvia.; Lace B; Riga East Clinical University, Institute of Clinical and Preventive Medicine of the University of Latvia, Riga 1586, Latvia.; Troncoso M; Pediatric Neuropsychiatry Service, Hospital Clínico San Borja Arriarán, Pediatric Department, Universidad de Chile, Santiago 1234, Chile.; Shohat M; The Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan 52621, Israel.; Shalata A; The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel.; Chan SHS; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Jokela M; Clinical Neurosciences, University of Turku, Turku, Finland and Neurocenter, Turku University Hospital, Turku 20520, Finland.; Neuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland.; Palmio J; Neuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland.; Haliloğlu G; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara 06230, Turkey.; Jou C; Pathology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona 08950, Spain.; Gartioux C; INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France.; Solomon-Degefa H; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.; Freiburg CD; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.; Schiavinato A; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.; Zhou H; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, UK.; Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Aguti S; Neurodegenerative Disease Department, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Nevo Y; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan.; Jimenez-Mallebrera C; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Barcelona 08950, Spain.; Lamandé SR; Department of Paediatrics, University of Melbourne, The Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Allamand V; INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France.; Gualandi F; Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy.; Ferlini A; Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. 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Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Bratman Morag S; Internal Medicine B, Rambam Health Care Campus, Israel; Genetic Institute, Rambam Health Care Campus, Israel. Electronic address: s_bratman@rambam.health.gov.il.; Itzkovich C; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Israel.; Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Israel.; Shohat M; Maccabi HMO Genetic Institute, Rehovot, and bioinformatics unit, cancer center, Sheba Medical Center; Sackler Medical School, Tel Aviv University, Israel.; Durr A; Sorbonne University, Paris Brain Institute, INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France.; de Sainte Agathe JM; Département de Génétique Médicale Assistance Publique-Hôpitaux de Paris, Sorbonne Université, France; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France.; Bertrand J; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France.; Koifman A; Genetic Institute, Samson Assuta Ashdod University Medical Center, Israel.; Alkelai A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY.; Shuldiner AR; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY.; Mory A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Israel.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Israel.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Israel.; Shalata A; The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Israel.; Paperna T; Genetic Institute, Rambam Health Care Campus, Israel.; Baris Feldman H; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Israel; Sackler Medical School, Tel Aviv University, Israel.; Kakun RR; Clinical Research Institute at Rambam (CRiR), Rambam Health Campus, Haifa, Israel.; Kornitzer D; Department of Molecular Microbiology, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Israel.; Salzberg A; Department of Genetics and Developmental Biology, Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Israel.; Weiss K; Genetic Institute, Rambam Health Care Campus, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Israel; Clinical Research Institute at Rambam (CRiR), Rambam Health Campus, Haifa, Israel. Electronic address: k_weiss@rambam.health.gov.il.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Korbel, Jan O.; Tirosh-Wagner, Tal; Urban, Alexander Eckehart; Chen, Xiao-Ning; Kasowski, Maya; Dal, Li; Grubert, Fabian; Erdman, Chandra; Gao, Michael C.; Lange, Ken; Sobel, Eric M.; Barlow, Gillian M.; Aylsworth, Arthur S.; Carpenter, Nancy J.; Clark, Robin Dawn; Cohen, Monika Y.; Doran, Eric; Falik-Zaccai, Tzipora; Lewin, Susan O.; Lott, Ira T.; McGillivray, Barbara C.; Moeschler, John B.; Pettenati, Mark J.; Pueschel, Slegfried M.; Raol, Kathleen W.; Shaffer, Lisa G.; Shohat, Mordechai; van Riper, Alexander J.; Warburton, Dorothy; Weissman, Sherman; Gerstein, Mark B.; Snyder, Michael; Korenberg, Julie R.; Ecker, Joseph R.

Proceedings of the National Academy of Sciences of the United States of America, 2009 Jul . 106(29), 12031-12036.

MARKOVICH, M. PERRY; SHOHAT, T.; RIKLIS, I.; AVNI, R.; YUJELEVSKI-ROZENBLIT, D.; BASSAL, R.; COHEN, D.; RORMAN, E.

Epidemiology and Infection, 2014 Jan 01. 142(1), 149-155.

Cowan, Ian, MD

Annals of Emergency Medicine. 17(5):545-546